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rs74315469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315469(A;A)
Make rs74315469(A;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626748
GeneARSA
is asnp
is mentioned by
dbSNPrs74315469
ebirs74315469
HLIrs74315469
Exacrs74315469
Varsomers74315469
Maprs74315469
PheGenIrs74315469
hapmaprs74315469
1000 genomesrs74315469
hgdprs74315469
ensemblrs74315469
gopubmedrs74315469
geneviewrs74315469
scholarrs74315469
googlers74315469
pharmgkbrs74315469
gwascentralrs74315469
openSNPrs74315469
23andMers74315469
23andMe allrs74315469
SNP Nexus

SNPshotrs74315469
SNPdbers74315469
MSV3drs74315469
GWAS Ctlgrs74315469
Max Magnitude0
OMIM607574
Desc
Variant0024
Relatedalso
ClinVar
Risk rs74315469(A;A)
Alt rs74315469(A;A)
Reference rs74315469(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065176G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003218.1,